Quantifying risk modifiers of hereditary hemochromatosis using genomic and electronic health record data - PubMed
5 hours ago
- #genetic risk
- #blood donation
- #hemochromatosis
- Hereditary hemochromatosis is an autosomal recessive disorder caused by excessive iron accumulation, with the C282Y variant in the HFE gene being the main cause.
- The study aimed to identify genetic and non-genetic modifiers of C282Y-related disease using data from 420,543 individuals in the FinnGen project.
- Three novel fine-mapped variants near the HFE gene were identified, with rs181949568 in the CASC15 gene showing significant association (OR 7.25, p = 1.96 × 10-8).
- Blood donation at least twice a year was found to reduce the risk of C282Y homozygotes to levels comparable to C282Y-H63D compound heterozygotes.
- The S65C variant was found to protect against severe disease (incidence ratio 0.328).
- The study suggests that hemochromatosis may be under-recognized in Finland and provides risk tables for clinical practice.